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O14493

- CLD4_HUMAN

UniProt

O14493 - CLD4_HUMAN

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Protein
Claudin-4
Gene
CLDN4, CPER, CPETR1, WBSCR8
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Plays a major role in tight junction-specific obliteration of the intercellular space By similarity.

GO - Molecular functioni

  1. identical protein binding Source: UniProtKB
  2. structural molecule activity Source: InterPro
  3. transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  1. calcium-independent cell-cell adhesion Source: UniProtKB
  2. establishment of skin barrier Source: UniProtKB
  3. female pregnancy Source: Ensembl
  4. response to progesterone Source: Ensembl
  5. signal transduction Source: GOC
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_19373. Tight junction interactions.

Protein family/group databases

TCDBi1.H.1.1.6. the claudin tight junction (claudin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-4
Alternative name(s):
Clostridium perfringens enterotoxin receptor
Short name:
CPE-R
Short name:
CPE-receptor
Williams-Beuren syndrome chromosomal region 8 protein
Gene namesi
Name:CLDN4
Synonyms:CPER, CPETR1, WBSCR8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2046. CLDN4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Reviewed prediction
Add
BLAST
Topological domaini29 – 8153Extracellular Reviewed prediction
Add
BLAST
Transmembranei82 – 10221Helical; Reviewed prediction
Add
BLAST
Topological domaini103 – 11715Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei118 – 13821Helical; Reviewed prediction
Add
BLAST
Topological domaini139 – 16022Extracellular Reviewed prediction
Add
BLAST
Transmembranei161 – 18121Helical; Reviewed prediction
Add
BLAST
Topological domaini182 – 20928Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. apicolateral plasma membrane Source: Ensembl
  3. basal plasma membrane Source: Ensembl
  4. integral component of plasma membrane Source: UniProtKB
  5. lateral plasma membrane Source: Ensembl
  6. plasma membrane Source: ProtInc
  7. tight junction Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi208 – 2081Y → F: Loss of phosphorylation by EPHA2. 1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

PharmGKBiPA26572.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 209209Claudin-4
PRO_0000144743Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei208 – 2081Phosphotyrosine; by EPHA21 Publication

Post-translational modificationi

Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO14493.
PaxDbiO14493.
PRIDEiO14493.

PTM databases

PhosphoSiteiO14493.

Expressioni

Gene expression databases

ArrayExpressiO14493.
BgeeiO14493.
CleanExiHS_CLDN4.
GenevestigatoriO14493.

Organism-specific databases

HPAiCAB002610.
HPA007322.

Interactioni

Subunit structurei

Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions.1 Publication

Protein-protein interaction databases

BioGridi107756. 2 interactions.
IntActiO14493. 1 interaction.
STRINGi9606.ENSP00000342445.

Structurei

3D structure databases

ProteinModelPortaliO14493.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 103103Interaction with EPHA2
Add
BLAST
Regioni208 – 2092Interactions with TJP1, TJP2 and TJP3 By similarity

Sequence similaritiesi

Belongs to the claudin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46413.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO14493.
KOiK06087.
OMAiTAHNVIR.
OrthoDBiEOG79KPGQ.
PhylomeDBiO14493.
TreeFamiTF331936.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003550. Claudin4.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01077. CLAUDIN.
PR01379. CLAUDIN4.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O14493-1 [UniParc]FASTAAdd to Basket

« Hide

MASMGLQVMG IALAVLGWLA VMLCCALPMW RVTAFIGSNI VTSQTIWEGL    50
WMNCVVQSTG QMQCKVYDSL LALPQDLQAA RALVIISIIV AALGVLLSVV 100
GGKCTNCLED ESAKAKTMIV AGVVFLLAGL MVIVPVSWTA HNIIQDFYNP 150
LVASGQKREM GASLYVGWAA SGLLLLGGGL LCCNCPPRTD KPYSAKYSAA 200
RSAAASNYV 209
Length:209
Mass (Da):22,077
Last modified:January 1, 1998 - v1
Checksum:i0659A93AA5F0E4C5
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB000712 mRNA. Translation: BAA22984.1.
BT006989 mRNA. Translation: AAP35635.1.
BC000671 mRNA. Translation: AAH00671.1.
CCDSiCCDS5560.1.
RefSeqiNP_001296.1. NM_001305.4.
UniGeneiHs.647036.
Hs.729359.

Genome annotation databases

EnsembliENST00000340958; ENSP00000342445; ENSG00000189143.
ENST00000431918; ENSP00000388639; ENSG00000189143.
ENST00000435050; ENSP00000409544; ENSG00000189143.
ENST00000573160; ENSP00000461070; ENSG00000262988.
ENST00000573932; ENSP00000460384; ENSG00000262988.
ENST00000574332; ENSP00000461587; ENSG00000262988.
GeneIDi1364.
KEGGihsa:1364.
UCSCiuc003tzi.4. human.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB000712 mRNA. Translation: BAA22984.1 .
BT006989 mRNA. Translation: AAP35635.1 .
BC000671 mRNA. Translation: AAH00671.1 .
CCDSi CCDS5560.1.
RefSeqi NP_001296.1. NM_001305.4.
UniGenei Hs.647036.
Hs.729359.

3D structure databases

ProteinModelPortali O14493.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107756. 2 interactions.
IntActi O14493. 1 interaction.
STRINGi 9606.ENSP00000342445.

Protein family/group databases

TCDBi 1.H.1.1.6. the claudin tight junction (claudin) family.

PTM databases

PhosphoSitei O14493.

Proteomic databases

MaxQBi O14493.
PaxDbi O14493.
PRIDEi O14493.

Protocols and materials databases

DNASUi 1364.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340958 ; ENSP00000342445 ; ENSG00000189143 .
ENST00000431918 ; ENSP00000388639 ; ENSG00000189143 .
ENST00000435050 ; ENSP00000409544 ; ENSG00000189143 .
ENST00000573160 ; ENSP00000461070 ; ENSG00000262988 .
ENST00000573932 ; ENSP00000460384 ; ENSG00000262988 .
ENST00000574332 ; ENSP00000461587 ; ENSG00000262988 .
GeneIDi 1364.
KEGGi hsa:1364.
UCSCi uc003tzi.4. human.

Organism-specific databases

CTDi 1364.
GeneCardsi GC07P073213.
HGNCi HGNC:2046. CLDN4.
HPAi CAB002610.
HPA007322.
MIMi 602909. gene.
neXtProti NX_O14493.
PharmGKBi PA26572.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46413.
HOGENOMi HOG000220937.
HOVERGENi HBG000643.
InParanoidi O14493.
KOi K06087.
OMAi TAHNVIR.
OrthoDBi EOG79KPGQ.
PhylomeDBi O14493.
TreeFami TF331936.

Enzyme and pathway databases

Reactomei REACT_19373. Tight junction interactions.

Miscellaneous databases

ChiTaRSi CLDN4. human.
GeneWikii CLDN4.
GenomeRNAii 1364.
NextBioi 5527.
PROi O14493.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14493.
Bgeei O14493.
CleanExi HS_CLDN4.
Genevestigatori O14493.

Family and domain databases

InterProi IPR006187. Claudin.
IPR003550. Claudin4.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view ]
PANTHERi PTHR12002. PTHR12002. 1 hit.
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01077. CLAUDIN.
PR01379. CLAUDIN4.
PROSITEi PS01346. CLAUDIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo."
    Katahira J., Sugiyama H., Inoue N., Horiguchi Y., Matsuda M., Sugimoto N.
    J. Biol. Chem. 272:26652-26658(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal brain.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  4. "EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability."
    Tanaka M., Kamata R., Sakai R.
    J. Biol. Chem. 280:42375-42382(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EPHA2 AND TJP1, MUTAGENESIS OF TYR-208, PHOSPHORYLATION AT TYR-208 BY EPHA2.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCLD4_HUMAN
AccessioniPrimary (citable) accession number: O14493
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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